High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita

Blood Cells, Molecules, and Diseases

Volumn 49, Issue 3-4, 2012, Pages 140-146

  Carrillo, J ^a,b   Martinez P ^b,c   Solera, J ^b,c   Moratilla, C ^a,b   Gonzalez A ^a,b   Manguan Garcia C ^a,b   Aymerich, M ^d   Canal, L ^e   del Campo, M ^f   Dapena, J L ^f   Escoda, L ^g   Garcia Sagredo J M ^h   Martin Sala S ^e   Rives, S ⁱ   Sevilla, J ^j   Sastre, L ^a,b   Perona, R ^a,b  

^a CSIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^d Hematopatology Unit   (Spain)

^e H Bellvitge Dermatology   (Spain)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g Servicio de Hematología   (Spain)

^h Medical Genetics ^*  (Spain)

ⁱ H San Joan de Deu   (Spain)

^j HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

more..

Author keywords

DKC1; Dyskeratosis congenita; HRM; HTERT; Telomerase

Indexed keywords

ARGININE; HISTIDINE; LYSINE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DKC1 GENE; DNA SEQUENCE; DYSKERATOSIS CONGENITA; ETHNIC GROUP; EXON; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPANISH; TELOMERE; TELOMERE SHORTENING; TERT GENE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; BONE MARROW; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DYSKERATOSIS CONGENITA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TELOMERASE; TELOMERE;

EID: 84865969331     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.05.008     Document Type: Article

References (30)

1. Savage S.A. Dyskeratosis Congenita. The first NIH clinical research workshop. Pediatr. Blood Cancer 2009, 53:520-523.
2. Hreidarsson S., Kristjansson K., Johannesson G., Johannsson J.H. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr. Scand. 1988, 77:773-775.
3. Berthet F., Tuchschmid P., Boltshauser E., Seger R.A. The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. Eur. J. Pediatr. 1995, 154:998.
4. Kirwan M., Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim. Biophys. Acta 2009, 1792:371-379.
5. Kirwan M., Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clin. Genet. 2008, 73:103-112.
6. Walne A.J., Dokal I. Dyskeratosis congenita: a historical perspective. Mech. Ageing Dev. 2008, 129:48-59.
7. Amanda J.W., Inderjeet D. Advances in the understanding of dyskeratosis congenita. Br. J. Haematol. 2009, 145:164-172.
8. Calado R.T., Young N.S. Telomere Diseases. N. Engl. J. Med. 2009, 361:2353-2365.
9. Bessler M., Wilson D.B., Mason P.J. Dyskeratosis congenita. FEBS Lett. 2010, 584:3831-3838.
10. Nelson N.D., Bertuch A.A. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat. Res. 2012, 730:43-51.
11. Zhong F., Savage S.A., Shkreli M., et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev. 2011, 25:11-16.
12. Walne A.J., Vulliamy T., Beswick R., Kirwan M., Dokal I. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum. Mol. Genet. 2010, 19:4453-4461.
13. Montgomery J., Wittwer C.T., Palais R., Zhou L. Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis. Nat. Protoc. 2007, 2:59-66.
14. Erali M., Voelkerding K.V., Wittwer C.T. High resolution melting applications for clinical laboratory medicine. Exp. Mol. Pathol. 2008, 85:50-58.
15. Tricarico R., Crucianelli F., Alvau A., et al. High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene. BMC Cancer 2011, 11:305-313.
16. Nomoto K., Tsuta K., Takano T., et al. Detection of EGFR mutations in archived cytologic specimens of non-small cell lung cancer using high-resolution melting analysis. Am. J. Clin. Pathol. 2006, 126:608-615.
17. Krypuy M., Newnham G., Thomas D., Conron M., Dobrovic A. High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer. BMC Cancer 2006, 6:295-306.
18. Willmore-Payne C., Holden J.A., Tripp S., Layfield L.J. Human malignant melanoma: detection of BRAF- and c-kit-activating mutations by high-resolution amplicon melting analysis. Hum. Pathol. 2005, 36:486-493.
19. Willmore-Payne C., Holden J.A., Layfield L.J. Detection of epidermal growth factor receptor and human epidermal growth factor receptor 2 activating mutations in lung adenocarcinoma by high-resolution melting amplicon analysis: correlation with gene copy number, protein expression, and hormone receptor expression. Hum. Pathol. 2006, 37:755-763.
20. Kennerson M.L., Warburton T., Nelis E., et al. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clin. Chem. 2007, 53:349-352.
21. Laurie A.D., Smith M.P., George P.M. Detection of factor VIII gene mutations by high-resolution melting analysis. Clin. Chem. 2007, 53:2211-2214.
22. de Juan I., Esteban E., Palanca S., Barragán E., Bolufer P. High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. Breast Cancer Res. Treat. 2009, 115:405-414.
23. Dokal I., Vulliamy T., Mason P., Bessler M. Clinical utility gene card for: Dyskeratosis congenita. Eur. J. Hum. Genet. 2011, 19. (Epub ahead of print).
24. Dokal I. Dyskeratosis congenita in all its forms. Br. J. Haematol. 2000, 110:768-779.
25. Knight S.W., Heiss N.S., Vulliamy T.J., et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am. J. Hum. Genet. 1999, 65:50-58.
26. Du H.Y., Pumbo E., Manley P., et al. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood 2008, 111:1128-1130.
27. Alter B.P., Baerlocher G.M., Savage S.A., et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007, 110:1439-1447.
28. Du H.Y., Pumbo E., Ivanovich J., et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009, 113:309-316.
29. Dokal I., Vulliamy T. Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Blood Rev. 2003, 17:217-225.
30. Armanios M., Chen J.L., Chang Y.P.C., et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:15960-15964.